Article
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2021
Ghosh Shereen G, Lee Sangmoon, Fabunan Rudy, Chai Guoliang, Zaki Maha S, Abdel-Salam Ghada, Sultan Tipu, Ben-Omran Tawfeg, Alvi Javeria Raza, McEvoy-Venneri Jennifer, Stanley Valentina, Patel Aakash, Ross Danica, Ding Jeffrey, Jain Mohit, Pan Daqiang, Lübbert Philipp, Kammerer Bernd, Wiedemann Nils, Verhoeven-Duif Nanda M, Jans Judith J, Murphy David, Toosi Mehran Beiraghi, Ashrafzadeh Farah, Imannezhad Shima, Karimiani Ehsan Ghayoor, Ibrahim Khalid, Waters Elizabeth R, Maroofian Reza, Gleeson Joseph G
Abstract excerpt
PURPOSE: Dioxygenases are oxidoreductase enzymes with roles in metabolic pathways necessary for aerobic life. 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL), encoded by HPDL, is an orphan paralogue of 4-hydroxyphenylpyruvate dioxygenase (HPD), an iron-dependent dioxygenase involved in tyrosine catabolism. The function and association of HPDL with human diseases remain unknown. METHODS: We applied exome...
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